Canonical Allele Identifier: CA388867812
Gene: RPGRIP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.21324924T>G , CM000676.2:g.21324924T>G GRCh38
NC_000014.8:g.21793083T>G , CM000676.1:g.21793083T>G GRCh37
NC_000014.7:g.20862923T>G NCBI36
NG_008933.1:g.41948T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000400017.7:c.2069T>G MANE Select ENSP00000382895.2:p.Phe690Cys
ENST00000382933.8:c.689-2699T>G ENSP00000372391.4:n.689-2699T>G
ENST00000400017.6:c.2069T>G ENSP00000382895.2:p.Phe690Cys
ENST00000553500.5:n.328+199T>G
ENST00000553927.1:n.1001T>G
ENST00000555322.5:c.496T>G
ENST00000555489.5:c.262T>G ENSP00000451044.1:n.262T>G
ENST00000555587.5:c.494T>G ENSP00000451262.1:p.Phe165Cys
ENST00000556336.5:c.1682-2699T>G ENSP00000450445.1:n.1682-2699T>G
ENST00000557771.5:c.1955T>G ENSP00000451219.1:p.Phe652Cys
NM_020366.3:c.2069T>G NP_065099.3:p.Phe690Cys
XM_005267879.2:c.995T>G XP_005267936.1:p.Phe332Cys
XM_005267880.2:c.962T>G XP_005267937.1:p.Phe321Cys
XM_005267881.2:c.443T>G XP_005267938.1:p.Phe148Cys
XM_011536978.1:c.995T>G XP_011535280.1:p.Phe332Cys
XM_011536979.1:c.797-18T>G XP_011535281.1:n.797-18T>G
XM_011536980.1:c.796+199T>G XP_011535282.1:n.796+199T>G
XM_011536981.1:c.995T>G XP_011535283.1:p.Phe332Cys
XM_011536982.1:c.796+199T>G XP_011535284.1:n.796+199T>G
XM_011536983.1:c.2036T>G XP_011535285.1:p.Phe679Cys
XM_005267881.3:c.443T>G XP_005267938.1:p.Phe148Cys
XM_017021473.1:c.995T>G XP_016876962.1:p.Phe332Cys
XM_024449663.1:c.995T>G XP_024305431.1:p.Phe332Cys
XM_024449664.1:c.995T>G XP_024305432.1:p.Phe332Cys
XM_024449665.1:c.796+199T>G XP_024305433.1:n.796+199T>G
XM_024449666.1:c.796+199T>G XP_024305434.1:n.796+199T>G
NM_001377523.1:c.689-2699T>G NP_001364452.1:n.689-2699T>G
NM_001377948.1:c.995T>G NP_001364877.1:p.Phe332Cys
NM_001377949.1:c.796+199T>G NP_001364878.1:n.796+199T>G
NM_001377950.1:c.689-2699T>G NP_001364879.1:n.689-2699T>G
NM_001377951.1:c.191-2699T>G NP_001364880.1:n.191-2699T>G
NM_020366.4:c.2069T>G MANE Select NP_065099.3:p.Phe690Cys